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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for APC |
 Gene summary |
| Gene information | Gene symbol | APC | Gene ID | 324 |
| Gene name | APC, WNT signaling pathway regulator | |
| Synonyms | BTPS2|DP2|DP2.5|DP3|GS|PPP1R46 | |
| Cytomap | 5q22.2 | |
| Type of gene | protein-coding | |
| Description | adenomatous polyposis coli proteinWNT signaling pathway regulatoradenomatosis polyposis coli tumor suppressoradenomatous polyposis coli (APC)deleted in polyposis 2.5protein phosphatase 1, regulatory subunit 46truncated adenomatosis polyposis coli | |
| Modification date | 20180527 | |
| UniProtAcc | P25054 | |
| Context | PubMed: APC [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) - A novel indel in exon 9 of APC upregulates a 'skip exon 9' isoform and causes very severe familial adenomatous polyposis.(24169521) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| APC | GO:0006974 | cellular response to DNA damage stimulus | 14728717 |
| APC | GO:0007026 | negative regulation of microtubule depolymerization | 11166179 |
| APC | GO:0007050 | cell cycle arrest | 8521819 |
| APC | GO:0008285 | negative regulation of cell proliferation | 8521819 |
| APC | GO:0045736 | negative regulation of cyclin-dependent protein serine/threonine kinase activity | 8521819 |
| APC | GO:0065003 | protein-containing complex assembly | 16188939 |
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Exon skipping events across known transcript of Ensembl for APC from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for APC |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for APC |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_436725 | 5 | 112043218:112043579:112090569:112090722:112102022:112102080 | 112090569:112090722 | ENSG00000134982.12 | ENST00000457016.1,ENST00000505350.1 |
| exon_skip_436726 | 5 | 112073591:112073622:112074049:112074157:112090569:112090722 | 112074049:112074157 | ENSG00000134982.12 | ENST00000508376.2 |
| exon_skip_436728 | 5 | 112073591:112073622:112090569:112090722:112102022:112102080 | 112090569:112090722 | ENSG00000134982.12 | ENST00000508624.1,ENST00000257430.4 |
| exon_skip_436729 | 5 | 112074049:112074157:112090569:112090722:112102022:112102080 | 112090569:112090722 | ENSG00000134982.12 | ENST00000508376.2,ENST00000512211.2 |
| exon_skip_436730 | 5 | 112090569:112090722:112102022:112102107:112102885:112103019 | 112102022:112102107 | ENSG00000134982.12 | ENST00000457016.1,ENST00000508624.1,ENST00000508376.2,ENST00000512211.2,ENST00000509732.1,ENST00000257430.4 |
| exon_skip_436731 | 5 | 112102885:112103087:112111325:112111434:112116486:112116600 | 112111325:112111434 | ENSG00000134982.12 | ENST00000457016.1,ENST00000508624.1,ENST00000508376.2,ENST00000512211.2,ENST00000507379.1,ENST00000257430.4 |
| exon_skip_436732 | 5 | 112116502:112116600:112128142:112128226:112136975:112137080 | 112128142:112128226 | ENSG00000134982.12 | ENST00000457016.1,ENST00000508624.1,ENST00000508376.2,ENST00000512211.2,ENST00000257430.4 |
| exon_skip_436734 | 5 | 112136975:112137080:112145822:112146008:112151191:112151290 | 112145822:112146008 | ENSG00000134982.12 | ENST00000508624.1 |
| exon_skip_436736 | 5 | 112151191:112151290:112154662:112155041:112157592:112157688 | 112154662:112155041 | ENSG00000134982.12 | ENST00000457016.1,ENST00000508624.1,ENST00000508376.2,ENST00000512211.2,ENST00000507379.1,ENST00000257430.4 |
| exon_skip_436739 | 5 | 112157592:112157688:112159003:112159057:112162804:112162944 | 112159003:112159057 | ENSG00000134982.12 | ENST00000504915.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for APC |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_436725 | 5 | 112043218:112043579:112090569:112090722:112102022:112102080 | 112090569:112090722 | ENSG00000134982.12 | ENST00000505350.1,ENST00000457016.1 |
| exon_skip_436726 | 5 | 112073591:112073622:112074049:112074157:112090569:112090722 | 112074049:112074157 | ENSG00000134982.12 | ENST00000508376.2 |
| exon_skip_436728 | 5 | 112073591:112073622:112090569:112090722:112102022:112102080 | 112090569:112090722 | ENSG00000134982.12 | ENST00000508624.1,ENST00000257430.4 |
| exon_skip_436729 | 5 | 112074049:112074157:112090569:112090722:112102022:112102080 | 112090569:112090722 | ENSG00000134982.12 | ENST00000508376.2,ENST00000512211.2 |
| exon_skip_436730 | 5 | 112090569:112090722:112102022:112102107:112102885:112103019 | 112102022:112102107 | ENSG00000134982.12 | ENST00000509732.1,ENST00000457016.1,ENST00000508624.1,ENST00000257430.4,ENST00000508376.2,ENST00000512211.2 |
| exon_skip_436731 | 5 | 112102885:112103087:112111325:112111434:112116486:112116600 | 112111325:112111434 | ENSG00000134982.12 | ENST00000457016.1,ENST00000507379.1,ENST00000508624.1,ENST00000257430.4,ENST00000508376.2,ENST00000512211.2 |
| exon_skip_436732 | 5 | 112116502:112116600:112128142:112128226:112136975:112137080 | 112128142:112128226 | ENSG00000134982.12 | ENST00000457016.1,ENST00000508624.1,ENST00000257430.4,ENST00000508376.2,ENST00000512211.2 |
| exon_skip_436734 | 5 | 112136975:112137080:112145822:112146008:112151191:112151290 | 112145822:112146008 | ENSG00000134982.12 | ENST00000508624.1 |
| exon_skip_436736 | 5 | 112151191:112151290:112154662:112155041:112157592:112157688 | 112154662:112155041 | ENSG00000134982.12 | ENST00000457016.1,ENST00000507379.1,ENST00000508624.1,ENST00000257430.4,ENST00000508376.2,ENST00000512211.2 |
| exon_skip_436739 | 5 | 112157592:112157688:112159003:112159057:112162804:112162944 | 112159003:112159057 | ENSG00000134982.12 | ENST00000504915.2 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for APC |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000257430 | 112090569 | 112090722 | 5CDS-5UTR |
| ENST00000508376 | 112090569 | 112090722 | 5CDS-5UTR |
| ENST00000508376 | 112074049 | 112074157 | 5UTR-5UTR |
| ENST00000257430 | 112102022 | 112102107 | Frame-shift |
| ENST00000508376 | 112102022 | 112102107 | Frame-shift |
| ENST00000257430 | 112111325 | 112111434 | Frame-shift |
| ENST00000508376 | 112111325 | 112111434 | Frame-shift |
| ENST00000257430 | 112154662 | 112155041 | Frame-shift |
| ENST00000508376 | 112154662 | 112155041 | Frame-shift |
| ENST00000257430 | 112128142 | 112128226 | In-frame |
| ENST00000508376 | 112128142 | 112128226 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000257430 | 112090569 | 112090722 | 5CDS-5UTR |
| ENST00000508376 | 112090569 | 112090722 | 5CDS-5UTR |
| ENST00000508376 | 112074049 | 112074157 | 5UTR-5UTR |
| ENST00000257430 | 112102022 | 112102107 | Frame-shift |
| ENST00000508376 | 112102022 | 112102107 | Frame-shift |
| ENST00000257430 | 112111325 | 112111434 | Frame-shift |
| ENST00000508376 | 112111325 | 112111434 | Frame-shift |
| ENST00000257430 | 112154662 | 112155041 | Frame-shift |
| ENST00000508376 | 112154662 | 112155041 | Frame-shift |
| ENST00000257430 | 112128142 | 112128226 | In-frame |
| ENST00000508376 | 112128142 | 112128226 | In-frame |
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Infer the effects of exon skipping event on protein functional features for APC |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000257430 | 10718 | 2843 | 112128142 | 112128226 | 702 | 785 | 215 | 243 |
| ENST00000508376 | 10636 | 2843 | 112128142 | 112128226 | 803 | 886 | 215 | 243 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000257430 | 10718 | 2843 | 112128142 | 112128226 | 702 | 785 | 215 | 243 |
| ENST00000508376 | 10636 | 2843 | 112128142 | 112128226 | 803 | 886 | 215 | 243 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P25054 | 215 | 243 | 217 | 244 | Alternative sequence | ID=VSP_059028;Note=In isoform 1B. Missing |
| P25054 | 215 | 243 | 217 | 244 | Alternative sequence | ID=VSP_059028;Note=In isoform 1B. Missing |
| P25054 | 215 | 243 | 2 | 2843 | Chain | ID=PRO_0000064627;Note=Adenomatous polyposis coli protein |
| P25054 | 215 | 243 | 2 | 2843 | Chain | ID=PRO_0000064627;Note=Adenomatous polyposis coli protein |
| P25054 | 215 | 243 | 127 | 248 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P25054 | 215 | 243 | 127 | 248 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P25054 | 215 | 243 | 1 | 730 | Compositional bias | Note=Leu-rich |
| P25054 | 215 | 243 | 1 | 730 | Compositional bias | Note=Leu-rich |
| P25054 | 215 | 243 | 208 | 238 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M5I |
| P25054 | 215 | 243 | 208 | 238 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M5I |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P25054 | 215 | 243 | 217 | 244 | Alternative sequence | ID=VSP_059028;Note=In isoform 1B. Missing |
| P25054 | 215 | 243 | 217 | 244 | Alternative sequence | ID=VSP_059028;Note=In isoform 1B. Missing |
| P25054 | 215 | 243 | 2 | 2843 | Chain | ID=PRO_0000064627;Note=Adenomatous polyposis coli protein |
| P25054 | 215 | 243 | 2 | 2843 | Chain | ID=PRO_0000064627;Note=Adenomatous polyposis coli protein |
| P25054 | 215 | 243 | 127 | 248 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P25054 | 215 | 243 | 127 | 248 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P25054 | 215 | 243 | 1 | 730 | Compositional bias | Note=Leu-rich |
| P25054 | 215 | 243 | 1 | 730 | Compositional bias | Note=Leu-rich |
| P25054 | 215 | 243 | 208 | 238 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M5I |
| P25054 | 215 | 243 | 208 | 238 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M5I |
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SNVs in the skipped exons for APC |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_436725 exon_skip_436729 exon_skip_436728 | 112090570 | 112090722 | 112090617 | 112090617 | Frame_Shift_Del | A | - | p.L10fs |
| COAD | TCGA-A6-6652-01 | exon_skip_436731 | 112111326 | 112111434 | 112111408 | 112111411 | Frame_Shift_Del | ATAG | - | p.168_169del |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_436732 | 112128143 | 112128226 | 112128171 | 112128171 | Frame_Shift_Del | A | - | p.E225fs |
| READ | TCGA-EI-6510-01 | exon_skip_436732 | 112128143 | 112128226 | 112128184 | 112128188 | Frame_Shift_Del | TCGTA | - | p.229_230del |
| COAD | TCGA-DM-A1D4-01 | exon_skip_436736 | 112154663 | 112155041 | 112154809 | 112154810 | Frame_Shift_Del | AC | - | p.360_360del |
| COAD | TCGA-G4-6311-01 | exon_skip_436730 | 112102023 | 112102107 | 112102031 | 112102032 | Frame_Shift_Ins | - | A | p.L58fs |
| KICH | TCGA-KL-8341-01 | exon_skip_436736 | 112154663 | 112155041 | 112155000 | 112155001 | Frame_Shift_Ins | - | G | p.Q424fs |
| LIHC | TCGA-DD-A3A8-01 | exon_skip_436731 | 112111326 | 112111434 | 112111380 | 112111380 | Nonsense_Mutation | C | G | p.Y159* |
| LIHC | TCGA-DD-A3A8-01 | exon_skip_436731 | 112111326 | 112111434 | 112111380 | 112111380 | Nonsense_Mutation | C | G | p.Y169X |
| COAD | TCGA-AA-A00Z-01 | exon_skip_436732 | 112128143 | 112128226 | 112128143 | 112128143 | Nonsense_Mutation | C | T | p.R216X |
| COAD | TCGA-AD-6888-01 | exon_skip_436732 | 112128143 | 112128226 | 112128143 | 112128143 | Nonsense_Mutation | C | T | p.R216X |
| COAD | TCGA-CK-4947-01 | exon_skip_436732 | 112128143 | 112128226 | 112128143 | 112128143 | Nonsense_Mutation | C | T | p.R216X |
| COAD | TCGA-CK-5914-01 | exon_skip_436732 | 112128143 | 112128226 | 112128143 | 112128143 | Nonsense_Mutation | C | T | p.R216X |
| COAD | TCGA-CM-5341-01 | exon_skip_436732 | 112128143 | 112128226 | 112128143 | 112128143 | Nonsense_Mutation | C | T | p.R216X |
| COAD | TCGA-CM-6172-01 | exon_skip_436732 | 112128143 | 112128226 | 112128143 | 112128143 | Nonsense_Mutation | C | T | p.R216X |
| COAD | TCGA-G4-6315-01 | exon_skip_436732 | 112128143 | 112128226 | 112128143 | 112128143 | Nonsense_Mutation | C | T | p.R216X |
| READ | TCGA-AG-3598-01 | exon_skip_436732 | 112128143 | 112128226 | 112128143 | 112128143 | Nonsense_Mutation | C | T | p.R216X |
| READ | TCGA-AG-3731-01 | exon_skip_436732 | 112128143 | 112128226 | 112128143 | 112128143 | Nonsense_Mutation | C | T | p.R216X |
| READ | TCGA-EI-6509-01 | exon_skip_436732 | 112128143 | 112128226 | 112128143 | 112128143 | Nonsense_Mutation | C | T | p.R216X |
| COAD | TCGA-AA-3531-01 | exon_skip_436732 | 112128143 | 112128226 | 112128191 | 112128191 | Nonsense_Mutation | C | T | p.R232X |
| COAD | TCGA-AZ-6601-01 | exon_skip_436732 | 112128143 | 112128226 | 112128191 | 112128191 | Nonsense_Mutation | C | T | p.R232X |
| COAD | TCGA-CM-6164-01 | exon_skip_436732 | 112128143 | 112128226 | 112128191 | 112128191 | Nonsense_Mutation | C | T | p.R232X |
| COAD | TCGA-D5-6920-01 | exon_skip_436732 | 112128143 | 112128226 | 112128191 | 112128191 | Nonsense_Mutation | C | T | p.R232X |
| COAD | TCGA-D5-6926-01 | exon_skip_436732 | 112128143 | 112128226 | 112128191 | 112128191 | Nonsense_Mutation | C | T | p.R232X |
| COAD | TCGA-G4-6626-01 | exon_skip_436732 | 112128143 | 112128226 | 112128191 | 112128191 | Nonsense_Mutation | C | T | p.R232X |
| READ | TCGA-AG-3598-01 | exon_skip_436732 | 112128143 | 112128226 | 112128191 | 112128191 | Nonsense_Mutation | C | T | p.R232X |
| UCEC | TCGA-AP-A051-01 | exon_skip_436732 | 112128143 | 112128226 | 112128191 | 112128191 | Nonsense_Mutation | C | T | p.R232* |
| LUSC | TCGA-22-5492-01 | exon_skip_436736 | 112154663 | 112155041 | 112154688 | 112154688 | Nonsense_Mutation | C | G | p.S320* |
| READ | TCGA-DC-6681-01 | exon_skip_436736 | 112154663 | 112155041 | 112154723 | 112154723 | Nonsense_Mutation | C | T | p.R314X |
| UCEC | TCGA-AX-A2HF-01 | exon_skip_436736 | 112154663 | 112155041 | 112154723 | 112154723 | Nonsense_Mutation | C | T | p.R332* |
| COAD | TCGA-CA-6717-01 | exon_skip_436736 | 112154663 | 112155041 | 112154771 | 112154771 | Nonsense_Mutation | C | T | p.R330X |
| COAD | TCGA-A6-2675-01 | exon_skip_436736 | 112154663 | 112155041 | 112154942 | 112154942 | Nonsense_Mutation | C | T | p.R387X |
| COAD | TCGA-AA-3712-01 | exon_skip_436736 | 112154663 | 112155041 | 112154958 | 112154958 | Nonsense_Mutation | T | A | p.L392X |
| BLCA | TCGA-BT-A2LB-01 | exon_skip_436736 | 112154663 | 112155041 | 112154981 | 112154981 | Nonsense_Mutation | G | T | p.E418* |
| READ | TCGA-AH-6897-01 | exon_skip_436736 | 112154663 | 112155041 | 112155011 | 112155011 | Nonsense_Mutation | G | T | p.E410X |
| LIHC | TCGA-DD-A4NP-01 | exon_skip_436731 | 112111326 | 112111434 | 112111324 | 112111324 | Splice_Site | A | G | . |
| LUAD | TCGA-50-5049-01 | exon_skip_436731 | 112111326 | 112111434 | 112111325 | 112111325 | Splice_Site | G | T | p.R141_splice |
| STAD | TCGA-BR-A452-01 | exon_skip_436731 | 112111326 | 112111434 | 112111436 | 112111436 | Splice_Site | T | G | . |
| STAD | TCGA-BR-A452-01 | exon_skip_436731 | 112111326 | 112111434 | 112111436 | 112111436 | Splice_Site | T | G | p.N177_splice |
| CHOL | TCGA-W5-AA38-01 | exon_skip_436736 | 112154663 | 112155041 | 112155042 | 112155042 | Splice_Site | G | T | . |
| COAD | TCGA-CK-5915-01 | exon_skip_436736 | 112154663 | 112155041 | 112155042 | 112155042 | Splice_Site | G | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| GEO_LARGE_INTESTINE | 112154663 | 112155041 | 112154759 | 112154759 | Frame_Shift_Del | T | - | p.C344fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 112102023 | 112102107 | 112102068 | 112102070 | In_Frame_Del | GCT | - | p.A61del |
| SNGM_ENDOMETRIUM | 112090570 | 112090722 | 112090592 | 112090592 | Missense_Mutation | C | T | p.A2V |
| L542_MATCHED_NORMAL_TISSUE | 112102023 | 112102107 | 112102039 | 112102039 | Missense_Mutation | T | C | p.L51P |
| JMSU1_URINARY_TRACT | 112102023 | 112102107 | 112102086 | 112102086 | Missense_Mutation | G | A | p.D67N |
| HCC2279_LUNG | 112111326 | 112111434 | 112111339 | 112111339 | Missense_Mutation | G | A | p.A146T |
| CCK81_LARGE_INTESTINE | 112111326 | 112111434 | 112111379 | 112111379 | Missense_Mutation | A | G | p.Y159C |
| HCC2998_LARGE_INTESTINE | 112111326 | 112111434 | 112111406 | 112111406 | Missense_Mutation | G | T | p.R168I |
| LB831BLC_URINARY_TRACT | 112128143 | 112128226 | 112128188 | 112128188 | Missense_Mutation | A | G | p.I231V |
| SNUC4_LARGE_INTESTINE | 112154663 | 112155041 | 112154703 | 112154703 | Missense_Mutation | A | G | p.H325R |
| HT115_LARGE_INTESTINE | 112154663 | 112155041 | 112154721 | 112154721 | Missense_Mutation | C | T | p.S331L |
| MPP89_PLEURA | 112154663 | 112155041 | 112154818 | 112154818 | Missense_Mutation | T | G | p.N363K |
| SKMEL5_SKIN | 112154663 | 112155041 | 112154948 | 112154948 | Missense_Mutation | C | T | p.L407F |
| SNU1040_LARGE_INTESTINE | 112154663 | 112155041 | 112154970 | 112154970 | Missense_Mutation | G | A | p.R414H |
| SNU1040_LARGE_INTESTINE | 112154663 | 112155041 | 112155018 | 112155018 | Missense_Mutation | G | C | p.G430A |
| LS123_LARGE_INTESTINE | 112154663 | 112155041 | 112155022 | 112155022 | Missense_Mutation | G | A | p.M431I |
| NCIH747_LARGE_INTESTINE | 112111326 | 112111434 | 112111384 | 112111384 | Nonsense_Mutation | C | T | p.Q161* |
| SNU1197_LARGE_INTESTINE | 112128143 | 112128226 | 112128191 | 112128191 | Nonsense_Mutation | C | T | p.R232* |
| SNU175_LARGE_INTESTINE | 112128143 | 112128226 | 112128191 | 112128191 | Nonsense_Mutation | C | T | p.R232* |
| NCIH1155_LUNG | 112128143 | 112128226 | 112128191 | 112128191 | Nonsense_Mutation | C | T | p.R232* |
| SNU1040_LARGE_INTESTINE | 112128143 | 112128226 | 112128191 | 112128191 | Nonsense_Mutation | C | T | p.R232* |
| HUG1N_STOMACH | 112154663 | 112155041 | 112154666 | 112154666 | Nonsense_Mutation | G | T | p.E313* |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112154663 | 112155041 | 112154771 | 112154771 | Nonsense_Mutation | C | T | p.R348* |
| SNU81_LARGE_INTESTINE | 112154663 | 112155041 | 112154808 | 112154808 | Nonsense_Mutation | T | G | p.L360* |
| CL34_LARGE_INTESTINE | 112154663 | 112155041 | 112154981 | 112154981 | Nonsense_Mutation | G | T | p.E418* |
| RCM1_LARGE_INTESTINE | 112128143 | 112128226 | 112128143 | 112128143 | Splice_Site | C | T | p.R216* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for APC |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for APC |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for APC |
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RelatedDrugs for APC |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for APC |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| APC | C0032580 | Adenomatous Polyposis Coli | 14 | CTD_human;ORPHANET;UNIPROT |
| APC | C0009375 | Colonic Neoplasms | 7 | CTD_human |
| APC | C0009404 | Colorectal Neoplasms | 6 | CTD_human |
| APC | C0021841 | Intestinal Neoplasms | 5 | CTD_human |
| APC | C0001430 | Adenoma | 4 | CTD_human |
| APC | C0021846 | Intestinal Polyps | 3 | CTD_human |
| APC | C0001418 | Adenocarcinoma | 2 | CTD_human |
| APC | C0004352 | Autistic Disorder | 2 | CTD_human |
| APC | C0007621 | Neoplastic Cell Transformation | 2 | CTD_human |
| APC | C0025149 | Medulloblastoma | 2 | CTD_human;UNIPROT |
| APC | C0034885 | Rectal Neoplasms | 2 | CTD_human |
| APC | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| APC | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 1 | CTD_human |
| APC | C0015393 | Eye Abnormalities | 1 | CTD_human |
| APC | C0017185 | Gastrointestinal Neoplasms | 1 | CTD_human |
| APC | C0017636 | Glioblastoma | 1 | CTD_human |
| APC | C0020473 | Hyperlipidemia | 1 | CTD_human |
| APC | C0021390 | Inflammatory Bowel Diseases | 1 | CTD_human |
| APC | C0023903 | Liver neoplasms | 1 | CTD_human |
| APC | C0024121 | Lung Neoplasms | 1 | CTD_human |
| APC | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| APC | C0025500 | Mesothelioma | 1 | CTD_human |
| APC | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| APC | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| APC | C0036341 | Schizophrenia | 1 | PSYGENET |
| APC | C0079218 | Fibromatosis, Aggressive | 1 | CTD_human;HPO;ORPHANET |
| APC | C0206646 | Fibromatosis, Abdominal | 1 | CTD_human |
| APC | C0206677 | Adenomatous Polyps | 1 | CTD_human |
| APC | C0265325 | Turcot syndrome (disorder) | 1 | CTD_human |
| APC | C0699791 | Stomach Carcinoma | 1 | HPO;UNIPROT |
| APC | C1879526 | Aberrant Crypt Foci | 1 | CTD_human |
| APC | C3714756 | Intellectual Disability | 1 | CTD_human |
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